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228 results on '"Legerski, Randy"'

22. The cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH

Author

Henning, Karla A., Li, Lei, Iyer, Narayan, McDaniel, Lisa D., Reagan, Michael S., Legerski, Randy, Schultz, Roger A., Stefanini, Miria, Lehmann, Alan R., Mayne, Lynne V., and Friedberg, Errol C.

Subjects
Heredity -- Research, Proteins -- Research, RNA polymerases -- Analysis, Genetic transcription -- Research, Biological sciences
Abstract

A study on the cloning of the CSA cDNA, which can encode a WD protein indicates that the products of the CSA and CSB genes are involved in transcription. The cloned CSB gene encodes a member of a protein family that includes the yeast Snf2 protein a component of the transcriptional regulator Swi/Snf. It is also found that CSA protein associates with CSB protein and with p44 protein, a subunit of the human RNA polymerase II transcription factor IIH.

Published
1995

23. Correction of chromosomal instability and sensitivity to diverse mutagens by a cloned cDNA of the XRCC3 DNA repair gene

Author

Tebbs, Robert S., Zhao, Ying, Tucker, James D., Scheerer, Julia B., Siciliano, Michael J., Hwang, Mona, Liu, Nan, Legerski, Randy J., and Thompson, Larry H.

Subjects
Chromosomes -- Research, Cloning -- Research, Cisplatin -- Analysis, Gamma rays -- Observations, DNA -- Research, Science and technology
Abstract

A cloned cDNA sequence of the XRCC3 repair gene is able to correct x-ray and cross-linking sensitivities and spontaneous irs1SF chromosomal aberrations. XPC cDNA was made by transfecting human XP-C cells with the pEBS7 library, and FAC cDNA was isolated. Transformants also partially corrected their sensitivity to gamma-rays and cisplatin. They efficiently corrected chromosomal instability, and showed better growth rate and plating efficiency.

Published
1995

24. Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C

Author

Legerski, Randy and Peterson, Carolyn

Subjects
Xeroderma pigmentosum -- Genetic aspects, DNA repair -- Research, Cloning -- Research, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

A complementary DNA (cDNA) system yields a clone that can rectify the abnormal sensitivity to ultraviolet radiation characteristic of xeroderma pigmentosum (XP), an autosomal recessive disorder. XP cells lack normal DNA repair that renders them vulnerable to sunlight and to an increased risk of cancer. However, a cDNA clone based on the plasmid pEBS7 of the Epstein-Barr virus normalized the ultraviolet resistance in the C variant of XP. This expression cloning technique overcame technical difficulties that had prevented isolation of DNA repair genes for XP.

Published
1992

31. Xeroderma Pigmentosum Group C Splice Mutation Associated with Autism and Hypoglycinemia

Author

Kraemer, Kenneth H., Emmert, Steffen, Legerski, Randy, Li, Lei, Cleaver, James E., Schneider, Thomas D., Reardon, Joyce T., Quackenbush, Elizabeth, Levy, Harvey L., Khan, Sikandar G., and Sancar, Aziz

Abstract

A 4 y old boy of Korean ancestry had xeroderma pigmentosum (XP) with sun sensitivity, multiple cutaneous neoplasms, and inability to speak. Neurologic examination revealed hyperactivity and autistic features without typical XP neurologic abnormalities. Cultured skin fibroblasts (XP22BE) showed decreased post-UV survival, reduced post-UV plasmid host cell reactivation and defective DNA repair (16% of normal unscheduled DNA synthesis in intact cells and undetectable excision repair in a cell free extract). In vitro and in vivo complementation assigned XP22BE to XP group C (XPC) and a markedly reduced level of XPC mRNA was found. Two XPC cDNA bands were identified. One band had a deletion of 161 bases comprising the entire exon 9, which resulted in premature termination of the mutant XPC mRNA. The larger band also had the same deletion of exon 9 but, in addition, had an insertion of 155 bases in its place (exon 9a), resulting in an in-frame XPC mRNA. Genomic DNA analysis revealed a T-->G mutation at the splice donor site of XPC exon 9, which markedly reduced its information content. The 155 base pair XPC exon 9a insertion was located in intron 9 and was flanked by strong splice donor and acceptor sequences. Analysis of the patient's blood showed persistently low levels of glycine (68 microM; NL, 125-318 microM). Normal glycine levels were maintained with oral glycine supplements and his hyperactivity diminished. These data provide evidence of an association of an XPC splice site mutation with autistic neurologic features and hypoglycinemia.

Published
1998
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